汪涵
助理研究员
研究领域：
AI驱动的罕见病精准医学研究：从致病基因智能鉴识、发病机制智能解析到个性化基因治疗。
既往成果：
作为课题骨干参与多个国家级及省部级重点科研项目，主持“北京协和医学院中央高校基本科研业务费青年教师项目”一项。以第一作者在Bone Research, Advanced Science,Orphanet Journal of Rare Diseases等国际知名期刊发表多篇研究论文。
代表学术论文：
1)Wang H*, Chen X*, Meng X, Cao Y, Han S, Liu K, Zhao X, Zhao X, Zhang X. The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice. Bone Res. 2024 Apr 1;12(1):21. doi: 10.1038/s41413-024-00322-y.
2)Wang, H., Li, S., Xu, Y, Feng B, Zhao X, Weng X. A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism. Orphanet J Rare Dis.2025;20(1):575. Published 2025 Nov 12.DOI: 10.1186/s13023-025-04070-y.
Wang H*, Zhu W, Wang S, Feng B, Weng X. Incidence and treatment-related risk factors of inhibitor development after intensive FVIII replacement for major orthopaedic surgery in previous treated haemophilia A. J Orthop Surg Res. 2024 Jun 16;19(1):358.doi: 10.1186/s13018-024-04843-4.
代表学术论文：
1)Wang H*, Chen X*, Meng X, Cao Y, Han S, Liu K, Zhao X, Zhao X, Zhang X. The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice. Bone Res. 2024 Apr 1;12(1):21. doi: 10.1038/s41413-024-00322-y.
2)Wang, H., Li, S., Xu, Y, Feng B, Zhao X, Weng X. A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism. Orphanet J Rare Dis.2025;20(1):575. Published 2025 Nov 12.DOI: 10.1186/s13023-025-04070-y.
Wang H*, Zhu W, Wang S, Feng B, Weng X. Incidence and treatment-related risk factors of inhibitor development after intensive FVIII replacement for major orthopaedic surgery in previous treated haemophilia A. J Orthop Surg Res. 2024 Jun 16;19(1):358.doi: 10.1186/s13018-024-04843-4.